Characterization of Dent's disease mutations of CLC-5 reveals a correlation between functional and cell biological consequences and protein structure

@article{Smith2009CharacterizationOD,
  title={Characterization of Dent's disease mutations of CLC-5 reveals a correlation between functional and cell biological consequences and protein structure},
  author={Andrew J. H. Smith and Anita A. C. Reed and Nellie Y. Loh and Rajesh V Thakker and Jonathan D. Lippiat},
  journal={American Journal of Physiology - Renal Physiology},
  year={2009},
  volume={296},
  pages={F390 - F397}
}
Mutations of the human CLCN5 gene, which encodes the CLC-5 Cl(-)/H(+) exchanger, lead to Dent's disease. Mutations result in functional defects that range from moderate reductions to complete loss of whole cell currents, although the severity of the functional defect rarely correlates with the severity of the disease. To further elucidate the basis of CLC-5 mutations causing Dent's disease, we examined the functional and cell biological consequences of seven previously reported missense mutants… CONTINUE READING

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